Hereditary transthyretin amyloidosis: a comprehensive review with a focus on peripheral neuropathy

L Poli, B Labella, S Cotti Piccinelli, F Caria… - Frontiers in …, 2023 - frontiersin.org
Amyloidoses represent a group of diseases characterized by the pathological accumulation
in the extracellular area of insoluble misfolded protein material called “amyloid”. The …

Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease

D Adams, H Koike, M Slama, T Coelho - Nature Reviews Neurology, 2019 - nature.com
Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis with polyneuropathy (also
known as familial amyloid polyneuropathy) is a condition with adult onset caused by …

Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis

A Carroll, PJ Dyck, M de Carvalho… - Journal of Neurology …, 2022 - jnnp.bmj.com
Hereditary transthyretin amyloidosis (ATTRv) is a severe, adult-onset autosomal dominant
inherited systemic disease predominantly affecting the peripheral and autonomic nervous …

Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with …

MF Dohrn, M Auer-Grumbach, R Baron, F Birklein… - Journal of …, 2021 - Springer
Hereditary transthyretin amyloidosis is caused by pathogenic variants (ATTR v) in the TTR
gene. Alongside cardiac dysfunction, the disease typically manifests with a severely …

Hereditary transthyretin amyloidosis overview

F Manganelli, GM Fabrizi, M Luigetti, P Mandich… - Neurological …, 2020 - Springer
Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis is a rare autosomal dominantly
inherited disorder caused by mutations in the transthyretin (TTR) gene. The pathogenetic …

Diagnosis and treatment of hereditary transthyretin amyloidosis (hATTR) polyneuropathy: current perspectives on improving patient care

M Luigetti, A Romano, A Di Paolantonio… - … and clinical risk …, 2020 - Taylor & Francis
Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy (formerly known as
Familial Amyloid Polyneuropathy) is a rare disease due to mutations in the gene encoding …

The neuropathy in hereditary transthyretin amyloidosis: a narrative review

S Tozza, D Severi, E Spina, A Iovino… - Journal of the …, 2021 - Wiley Online Library
Hereditary transthyretin amyloidosis (ATTRv) is a condition with adult onset, caused by
mutation of the transthyretin (TTR) gene and characterized by extracellular deposition of …

Hereditary transthyretin amyloidosis: baseline characteristics of patients in the NEURO-TTR trial

M Waddington-Cruz, EJ Ackermann, M Polydefkis… - Amyloid, 2018 - Taylor & Francis
Abstract Background: Hereditary transthyretin (ATTRm) amyloidosis is a rare, progressive
and fatal disease with a range of clinical manifestations. Objective: This study …

Clinical presentation, diagnosis and treatment of TTR amyloidosis

M Kapoor, AM Rossor, M Laura… - Journal of …, 2019 - content.iospress.com
Systemic amyloidosis can be hereditary or acquired with autosomal dominant mutations in
the transthyretin gene (TTR) being the most common cause of hereditary amyloidosis …

Transthyretin amyloidosis: an under-recognized neuropathy and cardiomyopathy

NJ Galant, P Westermark, JN Higaki… - Clinical …, 2017 - portlandpress.com
Transthyretin (TTR) amyloidosis (ATTR amyloidosis) is an underdiagnosed and important
type of cardiomyopathy and/or polyneuropathy that requires increased awareness within the …